A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9188



Internal ID9631293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37607870..37798732hg38UCSC Ensembl
Innerchr22:38003877..38194739hg19UCSC Ensembl
Innerchr22:36333823..36524685hg18UCSC Ensembl
Innerchr22:36328377..36519239hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38190863
hg19190863
hg18190863
hg17190863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758547
Supporting Variants
SamplesNA19128
Known GenesGGA1, LGALS1, NOL12, PDXP, SH3BP1, TRIOBP
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv9188
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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